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The transgenic construct contains a human SMN1 cDNA carrying the p.Gln282Ala missense mutation in exon 7 under the control of a 4.1 kb SMN promoter derived from the SMN2 gene. Founder line 2 carries eight copies of the transgene. The transgene integrated on chromosome 11 (70055009-70372513; mouse mm10]) resulting in a duplication of the 317 kb genomic region between the two identified fusion points. This duplicated region includes several loci (Asgr1, Asgr2, Mgl2, Clec10a, Slc16a11, Slc16a13, Bcl6b, Mir497b, Rnasek, Alox12 and Alox15). (J:101977, J:265815)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
